Clinical and Medical Case Reports

SLC8A1 Gene Polymorphism Rs13017968 and Hematological Parameters in Kawasaki Disease

Abstract

Evdoxia Sapountzi*, Andreas Giannopoulos, Styliani Fidani, Maria Trachana, Fragiskos Bersimis, Spiros Gerou and Assimina Galli-Tsinopoulou

Kawasaki disease, an acute inflammatory vasculitis, affects children <5 years old. Coronary artery aneurysms constitute a serious complication of the disease. Both genetic factors and hematological parameters (e.g., mean platelet volume-to-lymphocyte ratio) have been implicated in the development of Kawasaki disease and coronary artery aneurysms. We explored the role of rs13017968, a single nucleotide polymorphism in SLC8A1, and of the mean platelet volume-to-lymphocyte ratio in Kawasaki disease and coronary artery aneurysms.

This single-center, case-control study included children with Kawasaki disease treated in our clinic and healthy children registered in the emergency unit. All patients received intravenous immunoglobulin upon diagnosis. Primary outcomes included rs13017968 frequency and the mean platelet volume-to-lymphocyte ratio in patients (with/without coronary artery aneurysms) and healthy children. Secondary outcomes included the mean platelet volume-to-lymphocyte ratio before and after intravenous immunoglobulin in patients (with/without coronary aneurysms) and correlation of the mean platelet volume-to-lymphocyte ratio with inflammation markers, age, and sex.

Overall, 107 healthy children and 59 patients (mean age: 139.38 months vs 37.36 months) were analyzed. Coronary aneurysms developed in 33.9% of the patients. No statistically significant association was detected between rs13017968 and occurrence of Kawasaki disease or coronary aneurysms. The mean platelet volume-to-lymphocyte ratio was significantly lower in patients than in healthy children and significantly decreased after therapy. No significant interaction was found between the mean platelet volume-to-lymphocyte ratio and coronary aneurysms. The only significant associations were between occurrence of coronary aneurysms and sex and between age and the mean platelet volume-to-lymphocyte ratio (before and after therapy) in patients.

Although our results do not support an association of rs13017968 with Kawasaki disease or coronary aneurysms, the relatively small sample size should be considered. The mean platelet volume-to-lymphocyte ratio, age, and sex appear as significant factors in Kawasaki disease and coronary artery aneurysms. Therefore, larger scale studies are warranted.